Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency - Familial colorectal cancer type X

被引:397
作者
Lindor, NM
Rabe, K
Petersen, GM
Haile, R
Casey, G
Baron, J
Gallinger, S
Bapat, B
Aronson, M
Hopper, J
Jass, J
LeMarchand, L
Grove, J
Potter, J
Newcomb, P
Terdiman, JP
Conrad, P
Moslein, G
Goldberg, R
Ziogas, A
Anton-Culver, H
de Andrade, M
Siegmund, K
Thibodeau, SN
Boardman, LA
Seminara, D
机构
[1] Mayo Clin & Mayo Fdn, Dept Med Genet, Rochester, MN 55905 USA
[2] Mayo Clin & Mayo Fdn, Dept Hlth Sci Res, Rochester, MN 55905 USA
[3] Mayo Clin & Mayo Fdn, Dept Lab Med, Rochester, MN 55905 USA
[4] Mayo Clin & Mayo Fdn, Div Gastroenterol, Rochester, MN 55905 USA
[5] Univ So Calif, Los Angeles, CA USA
[6] Cleveland Clin, Cleveland, OH 44106 USA
[7] Dartmouth Coll Sch Med, Hanover, NH USA
[8] Univ Toronto, Mt Sinai Hosp, Toronto, ON M5G 1X5, Canada
[9] Univ Melbourne, Melbourne, Vic, Australia
[10] McGill Univ, Montreal, PQ, Canada
[11] Univ Hawaii, Canc Res Ctr, Honolulu, HI 96813 USA
[12] Fred Hutchinson Canc Res Ctr, Canc Prevent Program, Seattle, WA 98104 USA
[13] Univ San Francisco, Dept Canc Biol, San Francisco, CA 94117 USA
[14] Univ Dusseldorf, Dept Surg, D-4000 Dusseldorf, Germany
[15] Univ N Carolina, Chapel Hill, NC USA
[16] Univ Calif Irvine, Irvine, CA USA
[17] NCI, Div Canc Control & Populat Sci, Clin & Genet Epidemiol Res Branch, NIH, Bethesda, MD 20892 USA
来源
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION | 2005年 / 293卷 / 16期
关键词
D O I
10.1001/jama.293.16.1979
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Context Approximately 60% of families that meet the Amsterdam-I criteria (AC-I) for hereditary nonpolyposis colorectal cancer (HNPCC) have a hereditary abnormality in a DNA mismatch repair (MMR) gene. Cancer incidence in AC-I families with MMR gene mutations is reported to be very high, but cancer incidence for individuals in AC-I families with no evidence of an MMR defect is unknown. Objective To determine if cancer risks in AC-I families with no apparent deficiency in DNA MMR are different from cancer risks in AC-I families with DNA MMR abnormalities. Design, Setting, and Participants Identification (1997-2001) of 161 AC-I pedigrees from multiple population- and clinic-based sources,in North America and Germany, with families grouped into those with (group A) or without (group B) MMR deficiency by tumor testing. A total of 3422 relatives were included in the analyses. Main Outcome Measures Cancer incidence in groups A and B (excluding the 3 affected members used to define each pedigree as AC-I) and computed age- and sex-adjusted standardized incidence ratios (SIRs) using Surveillance, Epidemiology, and End Results data. Results Group A families from both population- and clinic-based series showed increased incidence of the HNPCC-related cancers. Group B families showed increased incidence only for colorectal cancer (SIR, 2.3; 95% confidence interval,. 1.7-3.0) and to a lesser extent than group A (SIR, 6.1; 95% confidence interval, 5.2-7.2) (P<.001). Conclusions Families who fulfill AC-I criteria but who have no evidence of a DNA MMR defect do not share the same cancer incidence as families with HNPCC-Lynch syndrome (ie, hereditary MMR deficiency). Relatives in such families have a lower incidence of colorectal cancer than those in families with HNPCC-Lynch syndrome, and incidence may not be increased for other cancers. These families should not be described or counseled as having HNPCC-Lynch syndrome. To facilitate distinguishing these entities, the designation of "familial colorectal cancer type V is suggested to describe this type of familial aggregation of colorectal cancer.
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页码:1979 / 1985
页数:7
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